nsv3924054
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:15,572,966
- Description:GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 38292 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 38298 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 10483 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924054 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 40,534,157 | 56,107,122 |
| nsv3924054 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 40,573,756 | 56,174,815 |
| nsv3924054 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 40,540,281 | 56,142,309 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146688 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136092.6, VCV000146855.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146688 | Submitted genomic | NC_000007.14:g.(?_ 40534157)_(5610712 2_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 40,534,157 | 56,107,122 |
| nssv15146688 | Submitted genomic | NC_000007.13:g.(?_ 40573756)_(5617481 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 40,573,756 | 56,174,815 |
| nssv15146688 | Submitted genomic | NC_000007.12:g.(?_ 40540281)_(5614230 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 40,540,281 | 56,142,309 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146688 | GRCh37: NC_000007.13:g.(?_40573756)_(56174815_?)del, GRCh38: NC_000007.14:g.(?_40534157)_(56107122_?)del, NCBI36: NC_000007.12:g.(?_40540281)_(56142309_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000136092.6, VCV000146855.2 | 1 |